Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2572925C>A | CA008494 | KCNQ1 | c.599C>A (p.Ala200Glu) c.478-10510C>A (n.478-10510C>A) c.860C>A (p.Ala287Glu) c.479C>A (p.Ala160Glu) c.124-10510C>A (n.124-10510C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572925C>T | CA379131554 | KCNQ1 | c.599C>T (p.Ala200Val) c.478-10510C>T (n.478-10510C>T) c.860C>T (p.Ala287Val) c.479C>T (p.Ala160Val) c.124-10510C>T (n.124-10510C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |